The nuclear background influences the penetrance of the near-homoplasmic m.1630 A>G MELAS variant in a symptomatic proband and asymptomatic mother

In this study, we report the metabolic consequences of the m.1630 A>G variant in fibroblasts from the symptomatic proband affected with the mitochondrial encephalomyopathy lactic acidosis and stroke-like episode Syndrome and her asymptomatic mother. By long-range PCR followed by massively paralle...

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Vydáno v:Mol Genet Metab
Hlavní autoři: Uittenbogaard, Martine, Wang, Hao, Zhang, Victor Wei, Wong, Lee-Jun, Brantner, Christine A, Gropman, Andrea, Chiaramello, Anne
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6773428/
https://ncbi.nlm.nih.gov/pubmed/30709774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.01.022
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